Prader–Willi syndrome is a rare, genetic disorder characterized especially by failure to thrive, short stature, mental retardation, hypotonia, functionally deficient gonads, and obesity. The presentation of Prader-Willi syndrome depends upon the age of the patient. In fetal life: Reduced fetal movements and abnormal…[1]
Congenital syphilis is a potentially lethal disease caused by Treponema pallidum infections occurring during intrauterine development. Skin, mucosal and bone lesions are characteristic for congenital syphilis that may be further complicated by CNS symptoms. Children at high risk and confirmed cases should be treated…[2]
Osteitis deformans, also known as Paget's disease, is a condition frequently observed in elderly patients, despite the fact that it's prevalence has decreased over the last 20 years. With unclear etiology, this pathological entity is characterized by abnormal behavior of osteoclasts and osteoblasts, leading to…[3]
Rubinstein-Taybi syndrome is a rare genetic disease characterized by mental and growth retardation and occurs as a result of chromosomal deletions and point mutations. Because the genes that are affected are involved in the development of numerous organs and tissues, the clinical presentation includes heart,…[4]
Gigantism is characterized by abnormal growth in children due to excessive production of insulinlike growth factor I (IGF-I). Basically there is excess production of growth hormone which contributes to the accelerated linear growth. Children with gigantism are taller than other age matched children. In many instances,…[5]
Fragile X syndrome is a genetic condition caused by a mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome. Fragile X syndrome in males is usually more severe than in females and males are never asymptomatic. This is because males have only one X chromosome (unlike females that have 2…[6]
Williams syndrome (Williams–Beuren syndrome) is a rare neurodevelopmental disorder characterized by mental retardation, hypercalcemia of infants, heart defects, characteristic facial features ("elfin" facial appearance) and failure to thrive. It is caused by a deletion on chromosome 7. The clinical features of Williams…[7]
Pallister-Killian syndrome, also known as Teschler-Nicola-Killian syndrome is a genetic condition characterized by mosaicism: 47, XX or XY, i(12)(p10)/ 46, XX or XY. The 47th chromosome is a 12p isochromosome. 12p tetrasomy and hexasomy cases have been described. The disease affects tissues in a differential manner, as…[8]
Launois syndrome (acromegalic gigantism) is typically caused by a pituitary tumor that secretes excess growth hormone. This condition results in the enlargement of skeletal and soft tissue, leading to characteristic gigantism and acromegaly. Launois syndrome (LS), also known as acromegalic gigantism or pituitary…[9]
Myotonic dystrophy is a kind of multisystem disease, which is inherited in nature. It is a chronic disease condition that gradually progresses, causing muscle wasting, myotonia, heart defects and development of cataracts. Myotonic dystrophy significantly affects multiple organs and systems involving the skeletal…[10]